aCGH Analysis Reveals Novel Mutations Associated with Congenital Diaphragmatic Hernia Plus (CDH+)

aCGH Analysis Reveals Novel Mutations Associated with Congenital Diaphragmatic Hernia Plus (CDH+)

Congenital diaphragmatic hernia (CDH) is a major birth anomaly that often occurs with additional non-hernia-related malformations, and is then referred to as CDH+. While the impact of genetic alterations does not play a major role in isolated CDH, patients with CDH+ display mutations that are usuall...

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Bibliographic Details
Main Authors: Yannick Schreiner, Teresa Stoll, Oliver Nowak, Meike Weis, Svetlana Hetjens, Eric Steck, Alba Perez Ortiz, Neysan Rafat
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Journal of Clinical Medicine
Subjects:
congenital diaphragmatic hernia plus
array-based genomic hybridization
copy number variations
single nucleotide variations
Online Access:https://www.mdpi.com/2077-0383/12/19/6111

Internet

https://www.mdpi.com/2077-0383/12/19/6111

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